Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Sickle cell disease associated with thalassemia; description of a rare mutation.

Clinical biochemistry - 1 Aug 2021

Mariño Sergio Felipe Pinzón, Gradilla Paloma Ropero, González Fernández Fernando Ataulfo, Martínez Ana María Villegas, Martínez Silvia Méndez, Bartol Puyal Francisco de Asís, Palomar Elisa Viladés, Otal Carlos Isanta, Ciordia Beatriz Cordón, Marsal Josep Oriol Casanovas, Bakali Badesa Samira, García Ortego José Alejando, Martínez Ana Gómez, Gracia María Ángeles Montañés, Recasens Valle

Abstract excerpt

Sickle cell disease (SCD) is a common hemoglobinopathy, secondary to alterations in the β globin chain, resulting in an abnormal hemoglobin variant named as hemoglobin S. These disorders show a wide phenotypical spectrum, and the prevalence of these disorders has significantly changed over the time because of multiple factors such as migration. We report a case of a 17-year-old black male, born in Gambia,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Anemia, Hemolytic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hemoglobinopathies

Share to Mutation

Share to Thalassemia

Source

Identifiers

PMID: 33901469
DOI: 10.1016/j.clinbiochem.2021.04.016

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sickle cell disease associated with thalassemia; description of a rare mutation.PMID 33901469Read ↗

Thalassemia syndromes in Serbia: an update.Semantic proximity Read ↗

β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.Semantic proximity Read ↗

A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population.Semantic proximity Read ↗

A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5HSemantic proximity Read ↗

Clinical phenotypes of three children with sickle cell disease caused by HbS/Sicilian (δβ)0 -thalassemia deletion.Semantic proximity Read ↗

IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient.Semantic proximity Read ↗

A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: phenotype and molecular characteristics.Semantic proximity Read ↗

The compound state: Hb S/beta-thalassemiaSemantic proximity Read ↗

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.Semantic proximity Read ↗

Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report.Semantic proximity Read ↗

A new beta-thalassemia allele, codon 26 (GAG-->GTAG), found in a Japanese.Semantic proximity Read ↗

A Rare Hemoglobinopathy Duo: Hb ADANA x Hb SEA in a One-Year-Old PatientSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.